Canonical Allele Identifier: CA1458759690
Gene: KIT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54726046C= , CM000666.2:g.54726046C= GRCh38
NC_000004.11:g.55592212C= , CM000666.1:g.55592212C= GRCh37
NC_000004.10:g.55286969C= NCBI36
NG_007456.1:g.73052C= , LRG_307:g.73052C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000412167.7:c.1531+8C= ENSP00000390987.3:n.1531+8C=
ENST00000685269.1:n.1614C=
ENST00000686011.1:c.1528+8C= ENSP00000509704.1:n.1528+8C=
ENST00000687109.1:c.1539C= ENSP00000509371.1:p.Asn513=
ENST00000687208.1:n.1951C=
ENST00000687246.1:c.1528+8C= ENSP00000509114.1:n.1528+8C=
ENST00000687265.1:n.1698+8C=
ENST00000687295.1:c.1528+8C= ENSP00000509450.1:n.1528+8C=
ENST00000689832.1:c.1539C= ENSP00000509084.1:p.Asn513=
ENST00000689994.1:c.1026C= ENSP00000509156.1:p.Asn342=
ENST00000690543.1:c.1531+8C= ENSP00000508831.1:n.1531+8C=
ENST00000690917.1:n.1754C=
ENST00000691361.1:n.450+8C=
ENST00000692783.1:c.1536C= ENSP00000508733.1:p.Asn512=
ENST00000692991.1:n.1637+8C=
ENST00000288135.6:c.1536C= MANE Select ENSP00000288135.6:p.Asn512=
ENST00000288135.5:c.1536C= ENSP00000288135.5:p.Asn512=
ENST00000412167.6:c.1528+8C= ENSP00000390987.2:n.1528+8C=
NM_000222.2:c.1536C= , LRG_307t1:c.1536C= NP_000213.1:p.Asn512=
NM_001093772.1:c.1528+8C= NP_001087241.1:n.1528+8C=
XM_005265740.1:c.1539C= XP_005265797.1:p.Asn513=
XM_005265741.1:c.1539C= XP_005265798.1:p.Asn513=
XM_005265742.1:c.1531+8C= XP_005265799.1:n.1531+8C=
XM_005265742.3:c.1531+8C= XP_005265799.1:n.1531+8C=
XM_017008178.1:c.1536C= XP_016863667.1:p.Asn512=
XM_017008179.1:c.1531+8C= XP_016863668.1:n.1531+8C=
XM_017008180.1:c.1528+8C= XP_016863669.1:n.1528+8C=
NM_000222.3:c.1536C= MANE Select NP_000213.1:p.Asn512=
NM_001093772.2:c.1528+8C= NP_001087241.1:n.1528+8C=
NM_001385284.1:c.1539C= NP_001372213.1:p.Asn513=
NM_001385285.1:c.1536C= NP_001372214.1:p.Asn512=
NM_001385286.1:c.1528+8C= NP_001372215.1:n.1528+8C=
NM_001385288.1:c.1531+8C= NP_001372217.1:n.1531+8C=
NM_001385290.1:c.1539C= NP_001372219.1:p.Asn513=
NM_001385292.1:c.1531+8C= NP_001372221.1:n.1531+8C=